rs4148950
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs4148950(A;A) |
Make rs4148950(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 72011948 |
Gene | CHST3 |
is a | snp |
is | mentioned by |
dbSNP | rs4148950 |
dbSNP (classic) | rs4148950 |
ClinGen | rs4148950 |
ebi | rs4148950 |
HLI | rs4148950 |
Exac | rs4148950 |
Gnomad | rs4148950 |
Varsome | rs4148950 |
LitVar | rs4148950 |
Map | rs4148950 |
PheGenI | rs4148950 |
Biobank | rs4148950 |
1000 genomes | rs4148950 |
hgdp | rs4148950 |
ensembl | rs4148950 |
geneview | rs4148950 |
scholar | rs4148950 |
rs4148950 | |
pharmgkb | rs4148950 |
gwascentral | rs4148950 |
openSNP | rs4148950 |
23andMe | rs4148950 |
SNPshot | rs4148950 |
SNPdbe | rs4148950 |
MSV3d | rs4148950 |
GWAS Ctlg | rs4148950 |
GMAF | 0.3154 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4148950(A;A) |
Alt | rs4148950(A;A) |
Reference | Rs4148950(G;G) |
Significance | Non-pathogenic |
Disease | Larsen syndrome Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia |
Variation | info |
Gene | CHST3 |
CLNDBN | Larsen syndrome Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia |
Reversed | 0 |
HGVS | NC_000010.10:g.73771706G>A |
CLNSRC | |
CLNACC | RCV000259512.1, RCV000304292.1, RCV000317109.1, RCV000361298.1, |